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GH insensitivity (GHI) is a condition characterized by pronounced IGF-I deficiency and severe short stature. We previously identified a novel compound heterozygous GH receptor (GHR) mutation, GHR:p.R229H/c.899dupC, in a patient presenting with GHI. The heterozygous p.R229H (prepeptide) variant was previously associated with GHI despite a lack of adequate functional studies. The novel heterozygous GHR:c.899dupC variant affects the critical JAK2-binding Box 1 region of the GHR intracellular domain; the duplication predicted a frameshift and early protein termination.

the journal of clinical endocrinology and metabolism/journal of clinical endocrinology and metabolism

The Growth Hormone Receptor (GHR)c.899dupCMutation Functions as a Dominant Negative: Insights into the Pathophysiology of IntracellularGHRDefects